NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL

Figure 1

Localization of missense mutations in NOTCH1. (a) DNA sequences, characterized by location of the missense mutations in three patients in comparison with the reference sequence of NOTCH1 gene (NG_007458.1). (b) Multiple sequence alignment of wild-type NOTCH1 protein (Uniprot ID: P46531) and mutated variants located in patients. EGF CA domain is a calcium-binding epidermal growth factor-like domain of NOTCH1. The amino acid residues in boxes are mutated positions.

(a)

(b)